Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981200A>C , CM000672.2:g.94981200A>C | GRCh38 |
| NC_000010.10:g.96740957A>C , CM000672.1:g.96740957A>C | GRCh37 |
| NC_000010.9:g.96730947A>C | NCBI36 |
| NG_008385.1:g.47543A>C | |
| NG_008385.2:g.48043A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.979A>C MANE Select | ENSP00000260682.6:p.Ile327Leu | |
| ENST00000643112.1:c.837A>C | ENSP00000496202.1:p.Arg279Ser | |
| ENST00000260682.6:c.979A>C | ENSP00000260682.6:p.Ile327Leu | |
| NM_000771.3:c.979A>C | NP_000762.2:p.Ile327Leu | |
| NM_000771.4:c.979A>C MANE Select | NP_000762.2:p.Ile327Leu |